Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin
Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeats in intron 1 of FXN, while some are compound heterozygotes with an expanded GAA tract in one allele...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2023-02-01
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| Col·lecció: | Neurobiology of Disease |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S0969996123000104 |
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